Works matching DE "MEDICAL genomics"

Results: 498
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    Enhancing infectious intestinal disease diagnosis through metagenomic and metatranscriptomic sequencing of 1000 human diarrhoeal samples.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01478-w
    By:
    • Cunningham-Oakes, Edward;
    • Perez-Sepulveda, Blanca M.;
    • Li, Yan;
    • Hinton, Jay C. D.;
    • Nelson, Charlotte A.;
    • McIntyre, K. Marie;
    • Wardeh, Maya;
    • Haldenby, Sam;
    • Gregory, Richard;
    • Iturriza-Gómara, Miren;
    • Hertz-Fowler, Christiane;
    • O'Brien, Sarah J.;
    • Cunliffe, Nigel A.;
    • Darby, Alistair C.;
    • on behalf of the INTEGRATE consortium;
    • Bolton, Frederick J;
    • Christley, Rob M;
    • Clough, Helen E;
    • Dawson, Susan;
    • Deja, Elizabeth
    Publication type:
    Article
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    Germline Variants in Sporadic Pituitary Adenomas.

    Published in:
    Journal of the Endocrine Society, 2024, v. 8, n. 6, p. 1, doi. 10.1210/jendso/bvae085
    By:
    • Alzahrani, Ali S;
    • Nafisah, Abdulghani Bin;
    • Alswailem, Meshael;
    • Alghamdi, Balgees;
    • Alsaihati, Burair;
    • Aljafar, Hussain;
    • Baz, Batoul;
    • Alhindi, Hindi;
    • Moria, Yosra;
    • Butt, Muhammad Imran;
    • Alkabbani, Abdulrahman Ghiatheddin;
    • Alshaikh, Omalkhaire M;
    • Alnassar, Anhar;
    • Afeef, Ahmed Bin;
    • AlQuraa, Reem;
    • Alsuhaibani, Rawan;
    • Alhadlaq, Omar;
    • Abothenain, Fayha;
    • Altwaijry, Yasser A
    Publication type:
    Article
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    Genetics and genomic medicine in Iran.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.606
    By:
    • Behnam, Babak;
    • Zakeri, Maryam
    Publication type:
    Article
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    Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45649-4
    By:
    • Ferar, Kathleen;
    • Hall, Taryn O.;
    • Crawford, Dana C.;
    • Rowley, Robb;
    • Satterfield, Benjamin A.;
    • Li, Rongling;
    • Gragert, Loren;
    • Karlson, Elizabeth W.;
    • de Andrade, Mariza;
    • Kullo, Iftikhar J.;
    • McCarty, Catherine A.;
    • Kho, Abel;
    • Hayes, M. Geoffrey;
    • Ritchie, Marylyn D.;
    • Crane, Paul K.;
    • Mirel, Daniel B.;
    • Carlson, Christopher;
    • Connolly, John J.;
    • Hakonarson, Hakon;
    • Crenshaw, Andrew T.
    Publication type:
    Article
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    Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45649-4
    By:
    • Ferar, Kathleen;
    • Hall, Taryn O.;
    • Crawford, Dana C.;
    • Rowley, Robb;
    • Satterfield, Benjamin A.;
    • Li, Rongling;
    • Gragert, Loren;
    • Karlson, Elizabeth W.;
    • de Andrade, Mariza;
    • Kullo, Iftikhar J.;
    • McCarty, Catherine A.;
    • Kho, Abel;
    • Hayes, M. Geoffrey;
    • Ritchie, Marylyn D.;
    • Crane, Paul K.;
    • Mirel, Daniel B.;
    • Carlson, Christopher;
    • Connolly, John J.;
    • Hakonarson, Hakon;
    • Crenshaw, Andrew T.
    Publication type:
    Article
    35

    A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-32169-4
    By:
    • Leggatt, Gary;
    • Cheng, Guo;
    • Narain, Sumit;
    • Briseño-Roa, Luis;
    • Annereau, Jean-Philippe;
    • Ambrose, J. C.;
    • Arumugam, P.;
    • Bevers, R.;
    • Bleda, M.;
    • Boardman-Pretty, F.;
    • Boustred, C. R.;
    • Brittain, H.;
    • Brown, M. A.;
    • Caulfield, M. J.;
    • Chan, G. C.;
    • Giess, A.;
    • Griffin, J. N.;
    • Hamblin, A.;
    • Henderson, S.;
    • Hubbard, T. J. P.
    Publication type:
    Article
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    Phenotyping: Targeting genotype's rich cousin for diagnosis.

    Published in:
    Journal of Paediatrics & Child Health, 2015, v. 51, n. 4, p. 381, doi. 10.1111/jpc.12705
    By:
    • Baynam, Gareth;
    • Walters, Mark;
    • Claes, Peter;
    • Kung, Stefanie;
    • LeSouef, Peter;
    • Dawkins, Hugh;
    • Bellgard, Matthew;
    • Girdea, Marta;
    • Brudno, Michael;
    • Robinson, Peter;
    • Zankl, Andreas;
    • Groza, Tudor;
    • Gillett, David;
    • Goldblatt, Jack
    Publication type:
    Article
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